Results 1 to 10 of about 103,499 (299)

Robertsonian Translocation t (21; 21) Offspring of a Balanced Translocation Carrier Parent; an Unfortunate Scenario

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Trisomy of chromosome 21 results in Down Syndrome (DS). It also occurs due to translocation between acrocentric chromosomes, namely 13, 14, 15, and 21.
Pallavi Bajpayee, Purushottam Rao Manvikar, Pramila Menon, Dattatraya Lende   +3 more
doaj   +1 more source

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Case Reports in Genetics, 2012
Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities ...
Marcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, Ester Silveira Ramos, Danilo Moretti-Ferreira   +4 more
doaj   +1 more source

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience. [PDF]

Genes (Basel), 2023
Soster E, Dyr B, Caldwell S, Sussman A, Magharyous H.   +4 more
europepmc   +1 more source

A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels. [PDF]

Case Rep Genet, 2023
Jahan Syeeda Khursheed K, Rahman Kaleemullah M, Joseph A, Hasan Al Durazi M, Bakhiet M.   +4 more
europepmc   +1 more source

Responses of ectomycorrhizal fungi to changes in carbon and nutrient availability [PDF]

, 2001
Ectomycorrhizal (ECM) fungi may receive 20% of the total C fixed by their host plants and are essential components of host nutrient acquisition. As a consequence of the vast physiological diversity that exists among ECM fungi, changes in community ...
Fransson, Petra M.A.
core  

Arabidopsis ABCG14 is essential for the root-to-shoot translocation of cytokinin. [PDF]

Cytokinins are phytohormones that induce cytokinesis and are essential for diverse developmental and physiological processes in plants. Cytokinins of the trans-zeatin type are mainly synthesized in root vasculature and transported to the shoot, where ...
Do, J, Endler, A, ENRICO, MARTINOIA, Kang, J, Kiba, T, KIM, KYUNG YOON, Ko, D, Kojima, M, Kwon, M, Lee, Y, Park, J, Sakakibara, H, SONG, WON YONG   +12 more
core   +1 more source

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report. [PDF]

BMC Pediatr, 2023
Li R, Wang C, Zhang Z, Li D, Li L, Zhao D, Xu Z.   +6 more
europepmc   +1 more source

Are ovarian responses and the number of transferable embryos different in females and partners of male balanced translocation carriers? [PDF]

J Assist Reprod Genet, 2022
Liu M, Bu Z, Liu Y, Liu J, Dai S.
europepmc   +1 more source

Hepatic heparan sulfate is a master regulator of hepcidin expression and iron homeostasis in human hepatocytes and mice. [PDF]

, 2019
Hepcidin is a liver-derived peptide hormone that controls systemic iron homeostasis. Its expression is regulated by the bone morphogenetic protein 6 (BMP6)/SMAD1/5/8 pathway and by the proinflammatory cytokine interleukin 6 (IL6).
Anower-E-Khuda, Ferdous, Arosio, Paolo, Asperti, Michela, Denardo, Andrea, Esko, Jeffrey D, Gordts, Philip LSM, Gryzik, Magdalena, Poli, Maura, Ruzzenenti, Paola   +8 more
core  

Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series. [PDF]

J Cell Mol Med, 2022
Yang C, Cui X, Xu L, Zhang Q, Tang S, Zhang M, Xie N.   +6 more
europepmc   +1 more source